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TTTTCTAGGTGGCAGGACAAATTGC[A/G]CCCATTTAGAGGATGTGGCTGTAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601530 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C5orf45 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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C5orf45 - chromosome 5 open reading frame 45 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001017987.2 | 568 | Missense Mutation | GCG,GTG | A,V 175 | NP_001017987.1 | |
NM_016175.3 | 568 | Missense Mutation | GCG,GTG | A,V 230 | NP_057259.2 |
SQSTM1 - sequestosome 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142298.1 | 568 | UTR 3 | NP_001135770.1 | |||
NM_001142299.1 | 568 | UTR 3 | NP_001135771.1 | |||
NM_003900.4 | 568 | UTR 3 | NP_003891.1 | |||
XM_011534683.2 | 568 | Intron | XP_011532985.1 | |||
XM_017010010.1 | 568 | Intron | XP_016865499.1 |